"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COL4A2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 311097	NM_001846.4(COL4A2):c.315+14G>T	COL4A2	Single nucleotide variant (intron variant)	Porencephaly 2 +2 more	GBenign/Likely benign
Select item 1194127	NM_001846.4(COL4A2):c.360+1G>A	COL4A2	Single nucleotide variant (splice donor variant)	Porencephaly 2 +2 more	GUncertain significance
Select item 311104	NM_001846.4(COL4A2):c.549+15G>C	COL4A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 311108	NM_001846.4(COL4A2):c.594C>T (p.Pro198=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 311110	NM_001846.4(COL4A2):c.732C>T (p.Asp244=)	COL4A2	Single nucleotide variant (synonymous variant)	Porencephaly 2 +2 more	GBenign/Likely benign
Select item 79302	NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=)	COL4A2	Single nucleotide variant (synonymous variant)	Porencephaly 2 +2 more	GLikely benign
Select item 29630	NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)	COL4A2 (Q1150K)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to +2 more	GBenign/Likely benign
Select item 1508130	NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)	COL4A2 (G1636S)	Single nucleotide variant (missense variant)	Porencephaly 2 +2 more	GConflicting classifications of pathogenicity

ClinVar